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Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia

Background: Loss of function mutations in the genes encoding the pancreatic β-cell ATP-sensitive potassium (KATP) channel are identified in approximately 80% of patients with diazoxide unresponsive hyperinsulinemic hypoglycemia (HH). For a small number of patients HH can occur as part of a multisyst...

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Detalles Bibliográficos
Autores principales: Flanagan, S. E., Kapoor, R. R., Smith, V. V., Hussain, K., Ellard, Sian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Research Foundation 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356130/
https://www.ncbi.nlm.nih.gov/pubmed/22654821
http://dx.doi.org/10.3389/fendo.2011.00066